Varaico: Literature-Extracted Genetic Variants

Gene:SGCZ
Variant:p.R221H

SGCZ

53 papers

RefSeq Summary

The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane prot...

Gene Aliases

HGNC Name

sarcoglycan zeta

HGNC Alias Symbol

ZSG1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_139167.4
p.R221H
c.662G>A
Surrounding Variants
1 paper
NM_139167.4
p.G222V
c.665G>T
1 paper
NM_139167.4
p.A219delFs
c.656delG
1 paper
NM_139167.4
p.V223I
c.667G>A
1 paper
NM_139167.4
p.E248*
c.742G>T
3 papers
NM_139167.4
p.P196L
c.587C>T
1 paper
NM_139167.4
p.T195M
c.584C>T
1 paper
NM_139167.4
p.E194V
c.581A>T
1 paper
NM_139167.4
p.E194G
c.581A>G
1 paper
NM_139167.4
p.S192Y
c.575C>A
1 paper
NM_139167.4
p.A187G
c.560C>G
1 paper
NM_139167.4
p.E185_A187delFs
c.553_559del7
1 paper
NM_139167.4
p.E185fs
c.553_554fs
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